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[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].

Abstract
At the age of 13 months a patient developed muscular hypotonia, deafness of the inner ear and cutaneous symptoms (alopecia; skin rash, complicated by superinfection with monilia). Biochemical assays revealed compensated metabolic acidosis, pathologically high lactate and pyruvate concentrations in the blood and cerebro-spinal fluid, as well as increased urinary excretion of 3-OH-isovaleric acid, 3-methylcrotonylglycine and lactate. The patient was diagnosed as suffering from autosomal recessive biotinidase deficiency on the basis of severely reduced biotinidase activity in plasma (0.05 nmol/min/ml). In both his parents and brother heterozygosity was found. Institution of therapy with a daily dose of 10 mg biotin rapidly removed most of the symptoms; after six months of treatment the deafness had improved significantly.
AuthorsJ Nothjunge, I Krägeloh-Mann, T M Suormala, E R Baumgartner
JournalMonatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde (Monatsschr Kinderheilkd) Vol. 137 Issue 11 Pg. 737-40 (Nov 1989) ISSN: 0026-9298 [Print] Germany
Vernacular TitleBiotinidasemangel: eine angeborene Stoffwechselerkrankung, die mit Vitamin H erfolgreich behandelt werden kann.
PMID2608075 (Publication Type: Case Reports, English Abstract, Journal Article)
Chemical References
  • Lactates
  • Pyruvates
  • Lactic Acid
  • Biotin
  • Pyruvic Acid
  • Amidohydrolases
  • Biotinidase
Topics
  • Acid-Base Equilibrium (drug effects)
  • Administration, Oral
  • Amidohydrolases (deficiency)
  • Biotin (administration & dosage)
  • Biotinidase
  • Follow-Up Studies
  • Humans
  • Infant
  • Lactates (blood)
  • Lactic Acid
  • Male
  • Multiple Carboxylase Deficiency (enzymology, therapy)
  • Pyruvates (blood)
  • Pyruvic Acid

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